TMEM216 Gene Joubert Syndrome Type 2 NGS Genetic DNA Test
Introduction
The TMEM216 Gene Joubert Syndrome Type 2 NGS Genetic DNA Test is a crucial diagnostic tool designed to identify genetic mutations associated with Joubert Syndrome, a rare neurological disorder. This test employs Next-Generation Sequencing (NGS) technology to provide accurate and comprehensive results, which are essential for guiding patient management and family planning.
What the Test Measures
This genetic test specifically detects mutations in the TMEM216 gene, which are linked to Joubert Syndrome Type 2. By analyzing the genetic material from a blood sample or extracted DNA, healthcare providers can determine if an individual carries these mutations.
Who Should Consider This Test?
Individuals exhibiting neurological symptoms such as developmental delays, ataxia, or abnormal eye movements should consider this test. Additionally, those with a family history of Joubert Syndrome or related neurological disorders may benefit from genetic testing to understand their risk and make informed health decisions.
Benefits of Taking the Test
- Provides clarity on the genetic basis of neurological symptoms.
- Guides treatment options and management strategies.
- Offers valuable information for family planning and genetic counseling.
- Helps in understanding the prognosis and potential outcomes of the condition.
Understanding Your Results
Results from the TMEM216 Gene Joubert Syndrome Type 2 NGS Genetic DNA Test will indicate whether mutations are present. It is important to discuss these results with a healthcare professional, who can provide guidance on the implications for health and family.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| TMEM216 Gene Joubert Syndrome Type 2 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test Today!
To schedule your TMEM216 Gene Joubert Syndrome Type 2 NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with the booking process and provide any additional information you may need.
Pre-Test Instructions
Before taking the test, it is essential to have a clinical history of the patient. A genetic counseling session is recommended to draw a pedigree chart of family members affected by TMEM216 Gene Joubert Syndrome Type 2.
Sample Type and Turnaround Time
The test can be performed using a blood sample, extracted DNA, or one drop of blood on an FTA card. Expect results within 3 to 4 weeks.
